IPO
MCID: INT072
MIFTS: 60

Intestinal Pseudo-Obstruction (IPO)

Categories: Fetal diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Intestinal Pseudo-Obstruction

MalaCards integrated aliases for Intestinal Pseudo-Obstruction:

Name: Intestinal Pseudo-Obstruction 12 73 20 43 29 54 6 44 15 17 70
Chronic Intestinal Pseudoobstruction 20 58 29 6
Chronic Intestinal Pseudo-Obstruction 12 54 70
Cipo 20 43 58
Chronic Idiopathic Intestinal Pseudo-Obstruction 43 36
Neuronal Intestinal Dysplasia 12 70
Familial Visceral Neuropathy 43 70
Familial Visceral Myopathy 43 58
Hollow Visceral Myopathy 20 70
Paralytic Ileus 43 70
Congenital Idiopathic Intestinal Pseudoobstruction 70
Pseudointestinal Obstruction Syndrome 43
Hereditary Hollow Visceral Myopathy 58
Familial Hollow Visceral Myopathy 58
Congenital Short Bowel Syndrome 43
Pseudo-Obstruction of Intestine 43
Megaduodenum and/or Megacystis 58
Intestinal Pseudoobstruction 20
Visceral Myopathy, Familial 70
Pseudoobstructive Syndrome 43
Enteric Neuropathy 43
Ciip 43
Ipo 43

Characteristics:

Orphanet epidemiological data:

58
familial visceral myopathy
Inheritance: Autosomal dominant; Age of onset: All ages;
chronic intestinal pseudoobstruction
Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:0080072
KEGG 36 H01276
MeSH 44 D007418
NCIt 50 C34733
SNOMED-CT 67 715201005
ICD10 via Orphanet 33 K56.0 K59.8
UMLS via Orphanet 71 C0238062 C0266833 C1835084
UMLS 70 C0021847 C0030446 C0238062 more

Summaries for Intestinal Pseudo-Obstruction

MedlinePlus Genetics : 43 Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).Intestinal pseudo-obstruction leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those of an intestinal blockage (obstruction), but in intestinal pseudo-obstruction no blockage is found.Depending on the cause of intestinal pseudo-obstruction, affected individuals can have additional signs and symptoms. Some people with intestinal pseudo-obstruction have bladder dysfunction such as an inability to pass urine. Other features may include decreased muscle tone (hypotonia) or stiffness (spasticity) of the torso and limbs, weakness in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections.When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic intestinal pseudo-obstruction. The disorder can also develop as a complication of another health problem; in these cases, it is called secondary intestinal pseudo-obstruction. The condition can be episodic (acute) or persistent (chronic).

MalaCards based summary : Intestinal Pseudo-Obstruction, also known as chronic intestinal pseudoobstruction, is related to congenital short bowel syndrome and visceral myopathy, and has symptoms including vomiting An important gene associated with Intestinal Pseudo-Obstruction is ACTG2 (Actin Gamma 2, Smooth Muscle), and among its related pathways/superpathways are MAPK signaling pathway and Focal adhesion. The drugs Prucalopride and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, eye and small intestine, and related phenotypes are vesicoureteral reflux and hydroureter

Disease Ontology : 12 A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.

GARD : 20 Chronic intestinal pseudo-obstruction (CIPO) is a rare disease characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. Problems with nerves, muscles, or interstitial cells of Cajal (the cells that set the pace of intestinal contractions) prevent normal contractions and cause problems with the movement of food, fluid, and air through the intestines. The most common symptoms are abdominal swelling or bloating (distention), vomiting, abdominal pain, failure to thrive, diarrhea, constipation, feeding intolerance and urinary symptoms. CIPO can occur in people of any age. It may be primary or secondary. Primary or idiopathic (where the cause is unknown) CIPO occurs by itself. Secondary CIPO develops as a complication of another medical condition. In some people with CIPO, the condition is caused by variations ( mutations ) affecting the FLNA or ACTG2 gene. Before making the diagnosis other conditions with similar symptoms should be ruled out. Treatment aims to restore the normal bowel movements and to correct nutritional deficiencies. Treatment may include antibiotics, prokinetic medications (metoclopramide, cisapride), surgical excision of intestinal segments in cases of localized disease, and parenteral nutrition. Intestinal transplantation has been successful in some cases. Several specialists may be needed for better management of the disease.

KEGG : 36 Chronic idiopathic intestinal pseudo-obstruction (CIIP) is a rare, often fatal syndrome, caused by a heterogeneous group of enteric neuromuscular diseases that result in a severe abnormality of gastrointestinal motility. The typical clinical manifestation is characterized by recurrent episodes of abdominal pain, abdominal distension, and inability to defecate. CIIP is one of the most important causes of chronic intestinal failure both in pediatric and adult cases, since affected individuals are often unable to maintain normal body weight and/or normal oral nutrition. CIIP is generally sporadic, but familial forms have also been described. It has been reported that flamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction.

Wikipedia : 73 Intestinal pseudo-obstruction is a clinical syndrome caused by severe impairment in the ability of the... more...

Related Diseases for Intestinal Pseudo-Obstruction

Diseases in the Intestinal Obstruction family:

Intestinal Pseudo-Obstruction

Diseases related to Intestinal Pseudo-Obstruction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 501)
# Related Disease Score Top Affiliating Genes
1 congenital short bowel syndrome 32.6 LOC112042785 FLNA CLMP
2 visceral myopathy 32.5 RAD21 MYLK MYH11 LMOD1 DLGAP4-AS1 ACTG2
3 megacystis-microcolon-intestinal hypoperistalsis syndrome 32.1 MYLK MYH11 LMOD1 DLGAP4-AS1 ACTG2
4 intestinal obstruction 31.8 SGO1 RET FLNA EDNRB EDN3
5 constipation 31.6 RET MLNR FLNA EDNRB EDN3
6 mitochondrial neurogastrointestinal encephalomyopathy 31.1 TYMP POLG
7 volvulus of midgut 31.1 MLNR LMOD1
8 hirschsprung disease 1 30.9 TLX2 SOX10 RET EDNRB EDN3
9 microcolon 30.8 MYLK MYH11 LMOD1 DLGAP4-AS1 ACTG2
10 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 30.7 SOX10 EDNRB EDN3
11 waardenburg's syndrome 30.7 SOX10 RET EDNRB EDN3
12 megacolon 30.6 TLX2 SOX10 RET EDNRB EDN3
13 patent ductus arteriosus 1 30.6 MYLK MYH11 FLNA
14 waardenburg syndrome, type 4c 30.5 SOX10 EDNRB EDN3
15 waardenburg syndrome, type 2e 30.5 SOX10 EDNRB EDN3
16 connective tissue disease 30.4 NDE1 MYLK MYH11 FLNA EDNRB
17 chronic progressive external ophthalmoplegia 30.4 TYMP POLG MT-TL1
18 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 30.4 TYMP POLG
19 crest syndrome 30.4 SOX10 EDNRB
20 aortic dissection 30.2 NDE1 MYLK MYH11
21 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 11.7
22 x-linked chronic idiopathic intestinal pseudo-obstruction 11.6
23 chronic atrial and intestinal dysrhythmia 11.6
24 mitochondrial dna depletion syndrome 4b 11.5
25 systemic scleroderma 11.3
26 mungan syndrome 11.2
27 visceral neuropathy, familial, autosomal dominant 11.2
28 neuronal intestinal dysplasia, type b 11.2
29 neuronal intestinal dysplasia type a 11.2
30 visceral neuropathy familial 11.1
31 myopathic intestinal pseudoobstruction 11.1
32 unclassified intestinal pseudoobstruction 11.1
33 myopathy 10.8
34 ileus 10.7
35 lupus erythematosus 10.7
36 systemic lupus erythematosus 10.7
37 amyloidosis 10.6
38 scleroderma, familial progressive 10.6
39 overgrowth syndrome 10.6
40 diarrhea 10.5
41 neuropathy 10.5
42 hypoganglionosis 10.5
43 waardenburg syndrome, type 2b 10.5 SOX10 EDN3
44 waardenburg syndrome, type 2c 10.4 SOX10 EDNRB EDN3
45 cochlear disease 10.4 SOX10 EDNRB EDN3
46 waardenburg syndrome type 4 10.4 SOX10 EDNRB EDN3
47 ogilvie syndrome 10.4
48 waardenburg syndrome, type 4b 10.4 SOX10 EDNRB EDN3
49 waardenburg syndrome, type 3 10.4 SOX10 EDNRB EDN3
50 tietz albinism-deafness syndrome 10.4 SOX10 EDNRB EDN3

Graphical network of the top 20 diseases related to Intestinal Pseudo-Obstruction:



Diseases related to Intestinal Pseudo-Obstruction

Symptoms & Phenotypes for Intestinal Pseudo-Obstruction

Human phenotypes related to Intestinal Pseudo-Obstruction:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vesicoureteral reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0000076
2 hydroureter 58 31 hallmark (90%) Very frequent (99-80%) HP:0000072
3 megacystis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000021
4 aplasia/hypoplasia of the abdominal wall musculature 58 31 frequent (33%) Frequent (79-30%) HP:0010318
5 intestinal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0002566
6 pyloric stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0002021
7 abdominal distention 58 31 frequent (33%) Frequent (79-30%) HP:0003270
8 abnormal nervous system morphology 31 frequent (33%) HP:0012639
9 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
10 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
11 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
12 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
13 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
14 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
15 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
16 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
17 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
18 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
19 hyperparathyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000843
20 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
21 broad forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000337
22 abdominal situs inversus 58 31 occasional (7.5%) Occasional (29-5%) HP:0003363
23 abnormal platelet morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0011875
24 narrow chest 58 31 occasional (7.5%) Occasional (29-5%) HP:0000774
25 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
26 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
27 anonychia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001798
28 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
29 malformation of the heart and great vessels 58 Occasional (29-5%)
30 abnormality of nervous system morphology 58 Frequent (79-30%)
31 abnormal intestine morphology 58 Very frequent (99-80%)

UMLS symptoms related to Intestinal Pseudo-Obstruction:


vomiting

MGI Mouse Phenotypes related to Intestinal Pseudo-Obstruction:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.36 CLMP EDN3 EDNRB FLNA MYH11 MYLK

Drugs & Therapeutics for Intestinal Pseudo-Obstruction

Drugs for Intestinal Pseudo-Obstruction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prucalopride Approved Phase 3 179474-81-8
2 Gastrointestinal Agents Phase 3
3 Serotonin Receptor Agonists Phase 3
4 Neurotransmitter Agents Phase 3
5 Cathartics Phase 3
6 Laxatives Phase 3
7
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
8
Rifaximin Approved, Investigational Phase 2 80621-81-4 6436173 46783403
9 Pharmaceutical Solutions Phase 2
10 Anti-Bacterial Agents Phase 2
11 Anti-Infective Agents Phase 2

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 The Effects of Gum Chewing on Bowel Function Recovery Following Cesarean Section: Randomized Controlled Trial Completed NCT01131416 Phase 2, Phase 3
2 Efficacy of Prucalopride in Critically Ill Patients With Paralytic Ileus; a Pilot Randomized Double-blind Controlled Trial Recruiting NCT04190173 Phase 3 Prucalopride;Placebo
3 Effects of Gum Chewing on Recovery of Bowel Function Following Abdominal Surgery for Endometrial and Ovarian Cancer: a Randomized Controlled Trial Withdrawn NCT01389986 Phase 2, Phase 3
4 Effect of Daikenchuto (TJ-100) on Intestinal Dysmotility and For the Prevention of Postoperative Paralytic Ileus in Patients Undergoing Pancreaticoduodenectomy: A Multicenter, Randomized, Placebo-Controlled Phase II Trial Unknown status NCT01607307 Phase 2 Oral/enteral TJ-100 solution;Oral/enteral placebo solution
5 A Double-Blind, Placebo-Controlled, Cross-Over, Multiple (n=1) Trial to Evaluate the Effects of R093877 in Patients With Chronic Intestinal Pseudo-Obstruction (CIP). Completed NCT00793247 Phase 2 PRU-PLA-PRU-PLA;PLA-PRU-PLA-PRU;PLA-PRU-PRU-PLA;PRU-PLA-PLA-PRU
6 Efficacy and Safety of Rifaximin for Patients With Chronic Intestinal Pseudo-obstruction: a Single Center, Randomized, Placebo Controlled, Double-blind Phase 2 Trial Recruiting NCT04118699 Phase 2 Rifaximin oral tablet;Placebo oral tablet
7 Acupuncture to Prevent Postoperative Paralytic Ileus Terminated NCT00065234 Phase 2
8 Effects of Laser Acupuncture Therapy on Paralytic Ileus Unknown status NCT03041675
9 The Rare Disease Clinical Research Network Natural History Study of MNGIE Unknown status NCT01694953
10 Efficacy and Safety of Fecal Microbiota Transplantation in Treatment of Chronic Intestinal Pseudo-obstruction: a Preliminary Study Completed NCT02731183
11 Randomized Controlled Trial of Rib Raising as Early Treatment for Post-operative Ileus Completed NCT03662672
12 The Effect of Postoperative Chewing Gum on Intestinal Functions After Gynecological Laparoscopic Surgery Completed NCT03884244
13 Effectiveness of Gum Chewing on Reduction of Postoperative Paralytic Ileus for Chinese Colorectal Cancer Patients Underwent Laparoscopic Colorectal Surgery and Enhanced Recovery Program Completed NCT02419586
14 A Case-control Study of the Gastrointestinal Response to a Liquid Test Meal in Chronic Intestinal Pseudo-obstruction, Using Magnetic Resonance Imaging Recruiting NCT04193735
15 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
16 Gastrointestinal Motility Diagnosis Registry Recruiting NCT04506593
17 Diagnostic Accuracy of Increased Serum Cytokine Levels as a Marker of Paralytic Ileus Following Robotic Radical Cystectomy Recruiting NCT03982498
18 Gum Chewing Reduces the Risk of Postoperative Ileus After Arthroplasty Procedures in The Elderly Population: A Parallel Design, Open-Label, Randomized Controlled Trial Not yet recruiting NCT04489875

Search NIH Clinical Center for Intestinal Pseudo-Obstruction

Cochrane evidence based reviews: intestinal pseudo-obstruction

Genetic Tests for Intestinal Pseudo-Obstruction

Genetic tests related to Intestinal Pseudo-Obstruction:

# Genetic test Affiliating Genes
1 Intestinal Pseudo-Obstruction 29 CLMP
2 Chronic Intestinal Pseudoobstruction 29

Anatomical Context for Intestinal Pseudo-Obstruction

MalaCards organs/tissues related to Intestinal Pseudo-Obstruction:

40
Smooth Muscle, Eye, Small Intestine, Colon, Heart, Liver, Lymph Node

Publications for Intestinal Pseudo-Obstruction

Articles related to Intestinal Pseudo-Obstruction:

(show top 50) (show all 1244)
# Title Authors PMID Year
1
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. 6 61
28422808 2017
2
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. 6 61
26813947 2016
3
ACTG2-Related Disorders 6 61
26072522 2015
4
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction. 61 6
24777424 2014
5
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 6
24676022 2014
6
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome. 6
29453416 2018
7
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 6
28602422 2017
8
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. 6
28292896 2017
9
Mutation in Actin γ-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients. 6
27007401 2016
10
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. 6
27352967 2016
11
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
12
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. 6
25407000 2015
13
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). 6
25998219 2015
14
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. 6
24337657 2014
15
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy. 6
22960657 2012
16
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. 6
22155368 2012
17
Congenital short bowel syndrome: a case report and review of the literature. 6
18209785 2008
18
Long-term outcome of a patient with congenital short bowel syndrome. 6
16707984 2006
19
[Intestinal pseudo-obstruction associated with polymyositis successfully treated with somatostatin analog]. 61 54
18323156 2008
20
Octreotide treatment for paraneoplastic intestinal pseudo-obstruction complicating SCLC. 54 61
15777981 2005
21
Acute pseudo-obstruction of the small intestine following high-dose chemotherapy and stem cell support. 61 54
12972700 2003
22
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. 54 61
12189494 2002
23
Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation. 54 61
11026454 2000
24
Intestinal pseudo-obstruction and ischemia secondary to both beta 2-microglobulin and serum A amyloid deposition. 54 61
7675780 1995
25
Intestinal pseudo-obstruction in patients with amyloidosis: clinicopathologic differences between chemical types of amyloid protein. 54 61
8244111 1993
26
Gastrointestinal dysfunction in movement disorders. 61
33538914 2021
27
Abdominal cocoon syndrome with military tuberculosis. 61
33475969 2021
28
Intestinal pseudo-obstruction: Unusual presentation of systemic lupus erythematous. 61
33768930 2021
29
Radiological evaluation of a case of chronic intestinal pseudo-obstruction (CIPO). 61
33488892 2021
30
Phenotypic switch of smooth muscle cells in paediatric chronic intestinal pseudo-obstruction syndrome. 61
33656779 2021
31
Gastrointestinal and hepatic involvement in paediatric systemic lupus erythematosus. 61
33666164 2021
32
Hirschsprung disease and more: dysregulation of ERBB2 and ERBB3. 61
33720042 2021
33
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans. 61
33497358 2021
34
Visceral Myopathy: Clinical syndromes, genetics, pathophysiology, and Fall of the Cytoskeleton. 61
33729000 2021
35
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction. 61
33294969 2021
36
Isolated intestinal polyarteritis nodosa in an elderly patient. 61
33664043 2021
37
Gastrointestinal motility disorders in neurologic disease. 61
33586685 2021
38
Megaesophagus and Megaduodenum Found Incidentally on a Routine Chest Radiograph During a Health Examination. 61
33518569 2021
39
Etiology and Management of Pediatric Intestinal Failure: Focus on the Non-Digestive Causes. 61
33673586 2021
40
Cannabinoids Improve Gastrointestinal Symptoms in a Parenteral Nutrition-Dependent Patient With Chronic Intestinal Pseudo-Obstruction. 61
32181915 2021
41
Atypical cause of intestinal pseudo-obstruction: Ehlers-Danlos syndrome. 61
33545247 2021
42
Twenty Years of Gut Transplantation for Chronic Intestinal Pseudo-obstruction: Technical Innovation, Long-term Outcome, Quality of Life, and Disease Recurrence. 61
31274659 2021
43
Chronic intestinal pseudo-obstruction in MELAS. 61
33226257 2021
44
Rare paraneoplastic syndromes in digestive systems caused by lung cancer. 61
33547104 2021
45
A woman with adult-onset Still's disease and acute intestinal pseudo-obstruction. 61
33489152 2021
46
Percutaneous endoscopic gastrojejunostomy in pediatric intestinal pseudo-obstruction. 61
33601120 2021
47
Could Chronic Idiopatic Intestinal Pseudo-Obstruction Be Related to Viral Infections? 61
33450988 2021
48
Variants in the Enteric Smooth Muscle Actin γ-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients. 61
32810037 2021
49
Inducible Deletion of YAP and TAZ in Adult Mouse Smooth Muscle Causes Rapid and Lethal Colonic Pseudo-Obstruction. 61
32992050 2021
50
Surveillance of Rejection After Intestinal Transplantation Using an Image Enhanced Endoscopy "VENCH" Scoring System. 61
33309060 2021

Variations for Intestinal Pseudo-Obstruction

ClinVar genetic disease variations for Intestinal Pseudo-Obstruction:

6 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLMP NM_024769.4(CLMP):c.230del (p.Glu77fs) Deletion Pathogenic 50383 rs587776964 GRCh37: 11:122955378-122955378
GRCh38: 11:123084670-123084670
2 CLMP , LOC112042785 NM_024769.4(CLMP):c.508C>T (p.Arg170Ter) SNV Pathogenic 224071 rs765907815 GRCh37: 11:122954436-122954436
GRCh38: 11:123083728-123083728
3 ACTG2 NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn) SNV Pathogenic 132805 rs587777388 GRCh37: 2:74136215-74136215
GRCh38: 2:73909088-73909088
4 ACTG2 NM_001615.4(ACTG2):c.593G>A (p.Gly198Asp) SNV Pathogenic 218312 rs864309492 GRCh37: 2:74140753-74140753
GRCh38: 2:73913626-73913626
5 ACTG2 NM_001615.4(ACTG2):c.134T>C (p.Met45Thr) SNV Pathogenic 218309 rs864309490 GRCh37: 2:74129494-74129494
GRCh38: 2:73902367-73902367
6 ACTG2 NM_001615.4(ACTG2):c.613G>A (p.Ala205Thr) SNV Pathogenic 369682 rs1057516046 GRCh37: 2:74140773-74140773
GRCh38: 2:73913646-73913646
7 LMOD1 NM_012134.3(LMOD1):c.1108C>T (p.Arg370Ter) SNV Pathogenic 264986 rs777696417 GRCh37: 1:201869033-201869033
GRCh38: 1:201899905-201899905
8 ACTG2 NM_001615.4(ACTG2):c.255+210C>A SNV Pathogenic 218311 rs768290597 GRCh37: 2:74129825-74129825
GRCh38: 2:73902698-73902698
9 ACTG2 NM_001615.4(ACTG2):c.116C>T (p.Pro39Leu) SNV Pathogenic 694268 rs1573461481 GRCh37: 2:74128554-74128554
GRCh38: 2:73901427-73901427
10 ACTG2 NM_001615.4(ACTG2):c.188G>A (p.Arg63Gln) SNV Pathogenic 694269 rs1573462811 GRCh37: 2:74129548-74129548
GRCh38: 2:73902421-73902421
11 ACTG2 NM_001615.4(ACTG2):c.806_807delinsAA (p.Gly269Glu) Indel Pathogenic 156554 rs587777870 GRCh37: 2:74143711-74143712
GRCh38: 2:73916584-73916585
12 MYLK NM_053025.4(MYLK):c.3838_3844dup (p.Glu1282fs) Duplication Pathogenic 264987 rs1553787823 GRCh37: 3:123383092-123383093
GRCh38: 3:123664245-123664246
13 CLMP NM_024769.4(CLMP):c.29-2A>G SNV Pathogenic 264668 rs879253855 GRCh37: 11:122968662-122968662
GRCh38: 11:123097954-123097954
14 ACTG2 NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu) SNV Pathogenic 132798 rs587777384 GRCh37: 2:74140693-74140693
GRCh38: 2:73913566-73913566
15 ACTG2 NM_001615.4(ACTG2):c.533G>A (p.Arg178His) SNV Pathogenic 132801 rs587777384 GRCh37: 2:74140693-74140693
GRCh38: 2:73913566-73913566
16 ACTG2 NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly) SNV Pathogenic 218310 rs864309491 GRCh37: 2:74129547-74129547
GRCh38: 2:73902420-73902420
17 ACTG2 NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser) SNV Pathogenic 132797 rs587777383 GRCh37: 2:74136257-74136257
GRCh38: 2:73909130-73909130
18 ACTG2 NM_001615.4(ACTG2):c.113G>A (p.Arg38His) SNV Pathogenic 217521 rs869312168 GRCh37: 2:74128551-74128551
GRCh38: 2:73901424-73901424
19 ACTG2 NM_001615.4(ACTG2):c.770G>A (p.Arg257His) SNV Pathogenic 208792 rs797044959 GRCh37: 2:74141963-74141963
GRCh38: 2:73914836-73914836
20 ACTG2 NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser) SNV Pathogenic 132797 rs587777383 GRCh37: 2:74136257-74136257
GRCh38: 2:73909130-73909130
21 ACTG2 NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) SNV Pathogenic 132799 rs587777385 GRCh37: 2:74128556-74128556
GRCh38: 2:73901429-73901429
22 ACTG2 NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys) SNV Pathogenic 132800 rs78001248 GRCh37: 2:74140692-74140692
GRCh38: 2:73913565-73913565
23 ACTG2 NM_001615.4(ACTG2):c.119G>A (p.Arg40His) SNV Pathogenic 132802 rs587777386 GRCh37: 2:74128557-74128557
GRCh38: 2:73901430-73901430
24 ACTG2 NM_001615.4(ACTG2):c.119G>A (p.Arg40His) SNV Pathogenic 132802 rs587777386 GRCh37: 2:74128557-74128557
GRCh38: 2:73901430-73901430
25 ACTG2 NM_001615.4(ACTG2):c.119G>A (p.Arg40His) SNV Pathogenic 132802 rs587777386 GRCh37: 2:74128557-74128557
GRCh38: 2:73901430-73901430
26 CLMP NM_024769.4(CLMP):c.821G>A (p.Arg274Gln) SNV Pathogenic 50384 rs587776965 GRCh37: 11:122945410-122945410
GRCh38: 11:123074702-123074702
27 CLMP NM_024769.4(CLMP):c.664C>T (p.Arg222Ter) SNV Pathogenic 50385 rs587776966 GRCh37: 11:122953808-122953808
GRCh38: 11:123083100-123083100
28 CLMP NM_024769.4(CLMP):c.371T>A (p.Val124Asp) SNV Pathogenic 50386 rs587776967 GRCh37: 11:122955237-122955237
GRCh38: 11:123084529-123084529
29 ACTG2 NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) SNV Pathogenic 132803 rs587777387 GRCh37: 2:74141962-74141962
GRCh38: 2:73914835-73914835
30 ACTG2 NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) SNV Pathogenic 132803 rs587777387 GRCh37: 2:74141962-74141962
GRCh38: 2:73914835-73914835
31 MYLK NM_053025.4(MYLK):c.3985+5G>T SNV Pathogenic 427851 rs1553787619 GRCh37: 3:123382947-123382947
GRCh38: 3:123664100-123664100
32 ACTG2 NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) SNV Pathogenic 132803 rs587777387 GRCh37: 2:74141962-74141962
GRCh38: 2:73914835-73914835
33 ACTG2 NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) SNV Pathogenic 132803 rs587777387 GRCh37: 2:74141962-74141962
GRCh38: 2:73914835-73914835
34 ACTG2 NM_001615.4(ACTG2):c.589_613+163del Deletion Likely pathogenic 872896 GRCh37: 2:74140749-74140936
GRCh38: 2:73913622-73913809
35 ACTG2 NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) SNV Likely pathogenic 495145 rs1553396458 GRCh37: 2:74141825-74141825
GRCh38: 2:73914698-73914698
36 ACTG2 NM_001615.4(ACTG2):c.348C>A (p.Asn116Lys) SNV Likely pathogenic 807365 rs757905857 GRCh37: 2:74135892-74135892
GRCh38: 2:73908765-73908765
37 MYH11 NM_002474.3(MYH11):c.3598A>T (p.Lys1200Ter) SNV Likely pathogenic 156401 rs786205435 GRCh37: 16:15826474-15826474
GRCh38: 16:15732617-15732617
38 MYH11 , NDE1 NM_002474.3(MYH11):c.5787-4707del Deletion Likely pathogenic 627645 rs747392139 GRCh37: 16:15802687-15802687
GRCh38: 16:15708830-15708830
39 MYH11 NM_002474.3(MYH11):c.379C>T (p.Pro127Ser) SNV Likely pathogenic 617478 rs1596904322 GRCh37: 16:15917235-15917235
GRCh38: 16:15823378-15823378
40 ACTG2 NM_001615.4(ACTG2):c.588G>C (p.Glu196Asp) SNV Likely pathogenic 973102 GRCh37: 2:74140748-74140748
GRCh38: 2:73913621-73913621
41 DLGAP4-AS1 and overlap with 1 gene(s) Deletion Likely pathogenic 437907 GRCh37: 20:35177147-35184110
GRCh38: 20:36548744-36555707
42 ACTG2 NM_001615.4(ACTG2):c.337C>G (p.Pro113Ala) SNV Likely pathogenic 666312 rs1573468797 GRCh37: 2:74135881-74135881
GRCh38: 2:73908754-73908754
43 ACTG2 NM_001615.4(ACTG2):c.443G>T (p.Arg148Leu) SNV Likely pathogenic 180620 rs730880256 GRCh37: 2:74136258-74136258
GRCh38: 2:73909131-73909131
44 ACTG2 NM_001615.4(ACTG2):c.123C>A (p.His41Gln) SNV Uncertain significance 973100 GRCh37: 2:74128561-74128561
GRCh38: 2:73901434-73901434
45 ACTG2 NM_001615.4(ACTG2):c.446C>G (p.Thr149Arg) SNV Uncertain significance 973101 GRCh37: 2:74136261-74136261
GRCh38: 2:73909134-73909134
46 ACTG2 NM_001615.4(ACTG2):c.255+210C>G SNV Uncertain significance 694318 rs768290597 GRCh37: 2:74129825-74129825
GRCh38: 2:73902698-73902698
47 MYL9 GRCh37/hg19 20q11.23(chr20:35177459-35178246)x1 copy number loss Uncertain significance 818205 GRCh37: 20:35177459-35178246
GRCh38:
48 ACTG2 NM_001615.4(ACTG2):c.1006C>T (p.Arg336Trp) SNV Uncertain significance 973103 GRCh37: 2:74146577-74146577
GRCh38: 2:73919450-73919450
49 ACTG2 NM_001615.4(ACTG2):c.67G>A (p.Ala23Thr) SNV Uncertain significance 495146 rs1553394796 GRCh37: 2:74128505-74128505
GRCh38: 2:73901378-73901378
50 ACTG2 NM_001615.4(ACTG2):c.614C>A (p.Ala205Asp) SNV Uncertain significance 992909 GRCh37: 2:74141807-74141807
GRCh38: 2:73914680-73914680

Expression for Intestinal Pseudo-Obstruction

Search GEO for disease gene expression data for Intestinal Pseudo-Obstruction.

Pathways for Intestinal Pseudo-Obstruction

Pathways related to Intestinal Pseudo-Obstruction according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Focal adhesion hsa04510

Pathways related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.02 MYLK MYH11 EDN3 ACTG2
2
Show member pathways
12.01 MYLK MYH11 FLNA ACTG2
3 10.8 MYLK MYH11 FLNA ACTG2
4 10.48 MYLK MYH11 LMOD1 ACTG2

GO Terms for Intestinal Pseudo-Obstruction

Cellular components related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.17 SGO1 RAD21 NDE1 MYLK LMOD1 FLNA
2 myosin filament GO:0032982 8.96 MYH11 ACTG2

Biological processes related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.62 MYLK MYH11 LMOD1 ACTG2
2 chromosome segregation GO:0007059 9.61 SGO1 RAD21 NDE1
3 response to pain GO:0048265 9.51 RET EDNRB
4 vasoconstriction GO:0042310 9.49 EDNRB EDN3
5 smooth muscle contraction GO:0006939 9.48 MYLK MYH11
6 positive regulation of potassium ion transmembrane transport GO:1901381 9.46 FLNA EDN3
7 meiotic sister chromatid cohesion GO:0051177 9.4 SGO1 RAD21
8 vein smooth muscle contraction GO:0014826 9.37 EDNRB EDN3
9 melanocyte differentiation GO:0030318 9.33 SOX10 EDNRB EDN3
10 posterior midgut development GO:0007497 9.26 RET EDNRB
11 neural crest cell migration GO:0001755 9.26 SOX10 RET EDNRB EDN3
12 enteric nervous system development GO:0048484 8.92 TLX2 SOX10 RET EDNRB

Sources for Intestinal Pseudo-Obstruction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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